{
    "disease_id": "DOID:0110819",
    "recommended_name": {
        "id": "DOID:0110819",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110819",
        "name": "hereditary spastic paraplegia 74",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110819",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110819",
            "name": "SPG74",
            "description": ""
        },
        {
            "id": "DOID:0110819",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110819",
            "name": "autosomal recessive spastic paraplegia 74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia 74",
            "description": "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported."
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "IBA57 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "SPG74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia caused by mutation in IBA57",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia type 74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "spastic paraplegia 74, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:616451",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616451",
            "name": "Spastic paraplegia 74, autosomal recessive",
            "description": "Spastic paraplegia 74, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110819"
    ],
    "unlinked_id_list": []
}